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Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.

Campos-Xavier, Belinda

Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type. [electronic resource] - American journal of medical genetics. Part A 12 2018 - 2934-2935 p. digital

Publication Type: Letter

ISSN: 1552-4833

Standard No.: 10.1002/ajmg.a.40631 doi

Subjects--Topical Terms:
Child
Comparative Genomic Hybridization
Female
GTP-Binding Proteins--genetics
Genetic Testing
Genetic Variation
Humans
Joint Instability--diagnosis
Male
Mutation
Osteochondrodysplasias--diagnosis
Phenotype
Radiography

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